Phenotype #0000348317

Individual ID 00460595
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite SIHIWES
Phenotype details see paper; ..., motor delay, 24m-walked; speech delay; hypotonia; mild intellectual disability (IQ 63); sensorineural hearing loss; no palatal anomalies; brachydactyly; no hypogonadotrophic hypogonadism; no growth hormone deficiency; stiff hips; MRI brain Arnold chiari type 1, hydrocephalus, cervicothoracic syringomyelia; ECG normal; strabismus, astigmatism, hypermetropia; underwent VP shunt, occipitocervical decompressio; overweight; insulin resistency; gastric sleeve procedure; hypertension; 12y-menarche
Inheritance Isolated (sporadic)
Age/Examination 23y (23 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-01-28 15:50:33 +01:00 (CET)
Date last edited N/A

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